Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.

نویسندگان

  • Tamara Lee Lenis
  • Elona Dhrami-Gavazi
  • Winston Lee
  • Sri Krishna Mukkamala
  • Mirela Raluca Tabacaru
  • Lawrence Yannuzzi
  • Peter Gouras
  • Stephen H Tsang
چکیده

seemedtobedark.Thenarrowingof the retinalvesselsanddisc pallor diminished gradually over time. In the late phase of the attack (after 1 minute 28 seconds), the retinal vessels were dilated and the disc was hyperemic. Video 2 and Video 3 show the reperfusionof the retinal circulation in the late phase. The images obtained immediately after the attack (Figure 2) show thedilatedretinalvessels in the righteye.The imagesshowthat the retinal veins and arteries in the right eye were more dilated than those in the left eye (not shown) or those obtained under normal conditions 1 month after the attack. Nohypercoagulabilitywas identifiedwithhematologicand serologic testing. Findings on neurologic tests and magnetic resonance imaging of the brainwere normal. The patientwas treatedwith propranolol hydrochloride because of an allergy to lomerizine hydrochloride, and the retinal migraines have not recurred.

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عنوان ژورنال:
  • JAMA ophthalmology

دوره 131 11  شماره 

صفحات  -

تاریخ انتشار 2013